Canonical Allele Identifier: CA600051636

Gene: DHCR7

Linked Data

• dbSNP Id: rs1265782887
• gnomAD v2: 11-71147917-GAC-G
• gnomAD v3: 11-71436871-GAC-G
• gnomAD v4: 11-71436871-GAC-G
• MyVariant Identifiers: chr11:g.71147918_71147919del (hg19) ; chr11:g.71436872_71436873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436879_71436880del , CM000673.2:g.71436879_71436880del	GRCh38
NC_000011.9:g.71147925_71147926del , CM000673.1:g.71147925_71147926del	GRCh37
NC_000011.8:g.70825573_70825574del	NCBI36
NG_012655.2:g.16559_16560del , LRG_340:g.16559_16560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.963+939_963+940del	ENSP00000435707.3:n.963+939_963+940del
ENST00000526780.6:c.963+939_963+940del	ENSP00000435668.2:n.963+939_963+940del
ENST00000527316.6:c.789+939_789+940del	ENSP00000435047.2:n.789+939_789+940del
ENST00000682708.1:c.1014+939_1014+940del	ENSP00000506866.1:n.1014+939_1014+940del
ENST00000682880.1:c.*801_*802del	ENSP00000507520.1:n.*801_*802del
ENST00000683287.1:c.999+939_999+940del	ENSP00000507607.1:n.999+939_999+940del
ENST00000683714.1:c.971+931_971+932del	ENSP00000508207.1:n.971+931_971+932del
ENST00000684396.1:n.1003+939_1003+940del
ENST00000685320.1:c.378+939_378+940del	ENSP00000509319.1:n.378+939_378+940del
ENST00000690257.1:c.867+939_867+940del	ENSP00000510750.1:n.867+939_867+940del
ENST00000355527.8:c.963+939_963+940del MANE Select	ENSP00000347717.4:n.963+939_963+940del
ENST00000355527.7:c.963+939_963+940del	ENSP00000347717.3:n.963+939_963+940del
ENST00000407721.6:c.963+939_963+940del	ENSP00000384739.2:n.963+939_963+940del
ENST00000525137.1:c.331-900_331-899del	ENSP00000435956.1:n.331-900_331-899del
ENST00000533800.5:c.213+939_213+940del	ENSP00000435011.1:n.213+939_213+940del
ENST00000534795.5:c.319+939_319+940del
NM_001163817.1:c.963+939_963+940del	NP_001157289.1:n.963+939_963+940del
NM_001360.2:c.963+939_963+940del , LRG_340t1:c.963+939_963+940del	NP_001351.2:n.963+939_963+940del
XM_011544777.1:c.964-900_964-899del	XP_011543079.1:n.964-900_964-899del
XM_011544777.2:c.964-900_964-899del	XP_011543079.1:n.964-900_964-899del
NM_001163817.2:c.963+939_963+940del	NP_001157289.1:n.963+939_963+940del
NM_001360.3:c.963+939_963+940del MANE Select	NP_001351.2:n.963+939_963+940del